Female patient, 37 years

From the MFSH survey of Fabry patients with D313Y and A143T mutations. Participants were asked to answer a few questions about how their symptoms improved with therapy.

– Which symptoms have improved exactly?

 My neurological symptoms are better overall, pain, ability to walk, sensitivity to cold, sweating, gastrointestinal and skin rash and kidney function.

 – How long after starting therapy did it take for the symptoms to improve?

I started sweating after about 3/4 years and then slowly over the years the skin and pain symptoms began to improve, then the kidneys and the gastrointestinal function and finally the cold sensation.

 – Have you stopped or had to stop the therapy?  If so, has it changed your symptoms?

Because I didn’t have my medication with me due to an emergency hospital stay for my son, I didn’t take the pills. The acute pain became increasingly stronger after 5 days, the skin rash and the kidney values. So, the creatinine excretion was increased again in the blood and in the urine.

The sensation of heat is still disturbed in the episodes when I’m overexerted, I have a very slight rash and kidney pains as well as tiredness and leg pains.

But the symptoms that were there before prevented me from being able to work. Now I enjoy working and I’m re-discovering my limits every day. Overall, I have regained a lot of quality of life. Important are the training sessions for the legs that I do every day and taking the pills every 2 days.